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PMID: 6246707 Published · ppublish English Journal Article

Albright's hereditary osteodystrophy.

Acta paediatrica Scandinavica ·Vol. 69 ·No. 3 ·1980-05-00 ·Pages 305-9

Boscherini B, Coen G, Bianchini G, Gallucci G, Ballanti P, Pasquino AM, Piccolo F, Manca Bitti ML, Spadoni GL

Abstract

The authors observed different clinical forms of Albright's hereditary osteodystrophy in 4 members of a family (two sisters, their mother and the maternal grandfather). The sisters were affected by pseudohypoparathyroidism type I, the older manifested the hypocalcemic variety, the younger the normocalcemic variety; the mother and the grandfather presented only with short stature and subcutaneous calcifications. The variety of clinical and biochemical alterations observed in these 3 generations supports evidence that Albright's hereditary osteodystrophy has a broad spectrum and that distinctions between the various forms of pseudohypoparathyroidsim should not be rigidly considered.

MeSH Terms
Adult Aged Body Height Calcium/blood Carpal Bones/diagnostic imaging Child Cyclic AMP/blood Female Fibrous Dysplasia of Bone/genetics Fibrous Dysplasia, Polyostotic/genetics Humans Infant Male Middle Aged Parathyroid Hormone/blood Phosphorus/blood Pseudohypoparathyroidism/genetics Radiography
Chemicals
Parathyroid Hormone Phosphorus Cyclic AMP Calcium
Authors & Affiliations
9 authors, click to expand affiliations / ORCID
Boscherini B
Coen G
Bianchini G
Gallucci G
Ballanti P
Pasquino A M
Piccolo F
Manca Bitti M L
Spadoni G L
Article Info
Journal
Acta paediatrica Scandinavica
Abbr.
Acta Paediatr Scand
ISSN
0001-656X
Published
1980-05-00
Pages
305-9
Language
English
Region
Sweden
NLM ID
0000211
Subset
IM
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